rs762681512, HSD17B13

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Deficiency of reductase
CUI: C1291316
Disease: Deficiency of reductase
8 0.925 0.160 4 87318405 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
Pseudohermaphroditism
CUI: C0033804
Disease: Pseudohermaphroditism
19 0.925 0.160 4 87318405 missense variant C/T snv 4.0E-06 0.010 1.000 1 1996 1996